ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.257C>T (p.Thr86Ile)

gnomAD frequency: 0.00004  dbSNP: rs369777755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317455 SCV001508119 uncertain significance Griscelli syndrome type 2 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 86 of the RAB27A protein (p.Thr86Ile). This variant is present in population databases (rs369777755, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with RAB27A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018190). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RAB27A protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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